Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 3 | 186854303 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 | 0.710 | 1.000 | 1 | 2003 | 2003 | ||||
|
11 | 0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 | 0.020 | 1.000 | 2 | 2003 | 2003 | |||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.080 | 3 | 186835068 | intergenic variant | A/G | snv | 0.86 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.280 | 3 | 186854300 | missense variant | T/C | snv | 2.2E-02 | 2.1E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
21 | 0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 3 | 186854219 | stop gained | G/A;T | snv | 4.4E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.807 | 0.200 | 16 | 28506388 | intron variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.790 | 0.320 | 16 | 82617112 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.925 | 0.120 | 16 | 28499524 | 3 prime UTR variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 3 | 186854237 | missense variant | G/A | snv | 3.0E-03 | 2.9E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.882 | 0.160 | 3 | 186848537 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.732 | 0.400 | 3 | 186849088 | intron variant | G/A | snv | 0.81 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 12 | 113398775 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 |